Eylem Sevinç

Variable clinical presentation in primary lymphoedema: report of two cases.

Lymphoedema is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system. Lymphoedema may be primary or secondary and can be inherited. Primary lymphoedema (primary lymphatic dysplasia) is a chronic oedema caused by a developmental abnormality of the lymphatic system. Primary lymphoedema most commonly affects the lower limbs, but other body parts can also be affected. It can be associated with some specific syndromes (i.e. Hennekam syndrome) and genetic disorders. In this article, we report on two patients with congenital multisegmental lymphoedema and Hennekam syndrome, both primary lymphoedemas.

Amino acid levels in children with celiac disease

BACKGROUND & AIM plasma amino acid levels may show differences in regard to physiological changes, diet and diseases. The aim of the study is to measure the amino acid levels in children with celiac disease and compare them with the controls. MATERIAL AND METHODS sixty-two children with classic celiac disease and 62 age and sex matched healthy control were enrolled in this study. Plasma amino acid levels of the children were measured by using tandem mass spectrometry. RESULTS celiac children had significant lower plasma levels of citrülline, glutamine and cystine than control (p.

Plasma glutamine and cystine are decreased and negatively correlated with endomysial antibody in children with celiac disease

BACKGROUND AND OBJECTIVES Glutamine is a nonessential amino acid which improves intestinal mucosal regeneration and absorption. Glutathione is a vital molecule for antioxidant reactions and is synthesized from cystine. The first aim of the study is to measure the plasma glutamine and cystine in children with celiac disease (CD) and compare them with controls. The second aim of this study is to investigate whether these amino acids are correlated with endomysial antibody (EMA) or not. METHODS AND STUDY DESIGN Fifty children with CD were compared to 50 healthy, age, and sex matched normal children as control. Plasma glutamine and cystine levels of the children were measured by using tandem mass spectrometry. RESULTS Plasma glutamine (808 vs 870 μmol/L) and cystine (19 vs 48.5 μmol/L) were significantly lower in the celiac group than the controls (p<0.05). The levels of plasma glutamine (797 vs 928 μmol/L, n=42) and cystine (18 vs 31.5 μmol/L, n=8) were lower (p<0.05) in the EMA-positive than the EMA-negative celiac patients. We could not find any statistically significance between EMA-negative celiac patients and controls for the plasma glutamine (928 vs 870 μmol/L) and cystine (31.5 vs 48.5 μmol/L) (p>0.05). Serum EMA was negatively correlated with plasma cystine (r=-0,321, p=0.023), glutamine (r=-0.413, p=0.003). CONCLUSIONS Our study indicated that plasma glutamine and cystine were significantly lower in the celiac children than the controls. Also, these amino acids were negatively correlated with EMA.

Eosinophilic esophagitis in a girl with pollen allergy who showed trachealization

Because the esophagus is normally devoid of eosinophils, detection of eosinophils in the esophagus often indicates pathological situations (1). Eosinophilic esophagitis (EoE) is a chronic, immunemediated esophageal disease clinically characterized by esophageal dysfunction related to symptoms and histologically by eosinophilpredominant inflammation. The current incidence rate is almost one in 2,500 individuals in pediatric populations. Pediatric patients with EoE present not only with dysphagia and swallowing difficulties, similar to adults with this disease, but also with abdominal pain and refluxlike symptoms (2). In particular, food allergens are believed to be involved in the pathogenesis of EoE. Furthermore, approximately 50% of EoE patients have coexisting atopic diseases (allergic rhinitis, food allergies, asthma, and atopic dermatitis). In addition, aeroallergens have been implicated as a contributing factor. The possible pollen associated mechanism of EoE may explain following the deposition of pollen into the nares and pharynx and the subsequent swallowing of secretions into esophagus (3). On endoscopic examination, EoE has been associated with a variety of abnormalities, such as linear furrowing, white exudates, and trachealization. There is no consensus regarding the treatment of EoE, although treatment strategies include medical management with topical or systemic corticosteroids and elimination diets (4). We present the case involving a 6yearold girl with asthma and allergic rhinoconjunctivitis who had EoE. The patient presented with refractory gastroesophageal reflux symptoms along with abdominal pain and intermittent dysphagia. Because of these symptoms, she had been treated with omeprazole for 1 year. After this period, her upper gastrointestinal endoscopy revealed edematous and pale mucosa, with loss of vascular pattern and ringed characteristic trachealized esophagus (Figure 1). EoE was documented by histopathology showing severe eosinophilic esophageal inflammation (Figure 2). From patient’s history, we also learned that she suffered from asthma attacks and symptoms of rhinoconjunctivitis, particularly during the spring period over the past 3 years. Her skin prick test was strongly positive for grass pollen. Use of inhaled ciclesonide, omeprazole, and montelukast provided temporary symptom resolution; however, the Turk J Gastroenterol 2015; 26: 69-70

THE INFLUENCE OF HLA-DQ2 HETERODIMERS ON THE CLINICAL FEATURES AND LABORATORY OF PATIENTS WITH CELIAC DISEASE.

BACKGROUND AND AIM the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease. MATERIAL AND METHODS we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features. RESULTS there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p < 0.046). CONCLUSION in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children.

İnek sütü proteini allerjisinden kaynaklanan hemorajik gastrit

Cows milk protein allergy is frequently seen in infancy. Its findings can be diverse, including different histopathological involvement ranging from a superficial to hemorrhagic gastritis. Children presenting with resistant emesis, hematemesis and hemorrhagic gastritis should be investigated for cows milk allergy. Endoscopy and biopsy are important in the diagnosis.